ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1571A>G (p.Tyr524Cys)

gnomAD frequency: 0.00001  dbSNP: rs770746493
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668769 SCV000793421 uncertain significance Bardet-Biedl syndrome 12 2017-08-23 criteria provided, single submitter clinical testing
Invitae RCV002531209 SCV003525529 uncertain significance Bardet-Biedl syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 524 of the BBS12 protein (p.Tyr524Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs770746493, ExAC 0.001%). This missense change has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 20120035). ClinVar contains an entry for this variant (Variation ID: 553346). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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